Molecular and clinical characterization of a Moroccan Cog7 deficient patient

被引：42

作者：

Ng, Bobby G.

Kranz, Christian

Hagebeuk, E. E. O.

Duran, M.

Abeling, N. G. G. M.

Wuyts, B.

Ungar, Daniel

Lupashin, Vladimir

Hartdorff, C. M.

Poll-The, B. T.

Freeze, Hudson H. ^{[1
]}

机构：

[1] Burnham Inst Med Res, Dept Glycobiol & Carbohydrate Chem, La Jolla, CA 92037 USA

[2] Univ Amsterdam, Acad Med Ctr, Dept Pediat Neurol, NL-1105 AZ Amsterdam, Netherlands

[3] Univ Hosp Gent, Ghent, Belgium

[4] OLVG, Dept Pediat, Amsterdam, Netherlands

[5] Princeton Univ, Dept Mol Biol, Princeton, NJ 08544 USA

[6] Univ Arkansas Med Sci, Dept Physiol & Biophys, Little Rock, AR 72205 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2007年 / 91卷 / 02期

关键词：

N-glycosylation; Cog7; congenital disorders of glycosylation;

D O I：

10.1016/j.ymgme.2007.02.011

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Mutations in the N-linked glycosylation pathway cause rare autosomal recessive defects known as Congenital Disorders of Glycosylation (CDG). A previously reported mutation in the Conserved Oligomeric Golgi complex gene, COG7, defined a new subtype of CDG in a Tunisian family. The mutation disrupted the hetero-octomeric COG complex and altered both N- and O-linked glycosylation. Here we present clinical and biochemical data from a second family with the same mutation. (c) 2007 Elsevier Inc. All rights reserved.

引用

页码：201 / 204

页数：4